614674.6

Country

Algeria

HPO Terms

Pes cavus; Impaired vibratory sensation; Areflexia of lower limbs; Peripheral axonal neuropathy; Hearing impairment; Gait ataxia; Dysarthria; Dysmetria; Cerebellar atrophy; Babinski sign; Reduced visual acuity; Amblyopia

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Sex

Female

Family History

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001042472.3:c.846_852dup	2		Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

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References

Fiskerstrand et al. 2010